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PubMed · 3277755

A new chromosomal instability disorder confirmed by complementation studies.

R D Wegner·M Metzger·F Hanefeld·N G Jaspers·C Baan·K Magdorf·J Kunze·K Sperling
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Abstract

Two sisters with a complex clinical pattern, including microcephaly, microgenia, defects of skin pigmentation, anal stenosis/atresia, and combined immunodeficiency together with spontaneous chromosomal instability and cellular hypersensitivity to X-rays and bleomycin are described. Complementation studies on heterokaryons proved that the underlying genetic defect is non-allelic with that of patients with ataxia telangiectasia (complementation groups AB-E) and the Nijmegen breakage syndrome, but identical with the case described by Conley et al. (1986).

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Ataxia TelangiectasiaChromosome FragilityChromosomes, Human, Pair 14Chromosomes, Human, Pair 7DNAFemaleHumansImmunologic Deficiency SyndromesInfant, NewbornKaryotypingMicrocephalyPigmentation DisordersCase ReportsJournal ArticleResearch Support, Non-U.S. Gov'tReview

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R D Wegner, M Metzger, F Hanefeld, N G Jaspers, C Baan, K Magdorf, J Kunze, K Sperling. 1988. A new chromosomal instability disorder confirmed by complementation studies.. https://pubmed.ncbi.nlm.nih.gov/3277755/

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